Attenuated variants of Lesch-Nyhan disease

JINNAH HA ; CEBALLOS-PICOT I; TORRES RJ; VISSER JE; SCHRETLEN DJ; VERDU A; LARÓVERE LE; CHEN CJ; COSSU A; WU CH; SAMPAT R; CHANG SJ; DE KREMER RD; NYHAN W; HARRIS JC; REICH SG; PUIG JG

OXFORD UNIV PRESS

Año: 2010 vol. 133 p. 671 - 671

esch?Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and self-injurious behaviour. In addition to the classic disease, variant forms of the disease occur wherein some clinical features are absent or unusually mild. The current studies provide the results of a prospective and multi-centre international study focusing on neurological manifestations of the largest cohort of Lesch-Nyhan disease variants evaluated to date, with 46 patients from 3 to 65 years of age coming from 34 families. All had vidence for overproduction of uric acid. Motor abnormalities were evident in 42 (91%), ranging from subtle clumsiness to severely disabling generalized dystonia. Cognitive function was affected in 31 (67%) but it was never severe. Though none exhibited self-